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Heterogeneity of retinal degeneration and hearing impairment syndromes.

作者信息

Bateman J B, Riedner E D, Levin L S, Maumenee I H

出版信息

Am J Ophthalmol. 1980 Dec;90(6):755-67. doi: 10.1016/s0002-9394(14)75190-6.

DOI:10.1016/s0002-9394(14)75190-6
PMID:7446663
Abstract

Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallinas syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.

摘要

相似文献

1
Heterogeneity of retinal degeneration and hearing impairment syndromes.
Am J Ophthalmol. 1980 Dec;90(6):755-67. doi: 10.1016/s0002-9394(14)75190-6.
2
The patient's view: Usher's syndrome.患者视角:乌舍尔综合征
Can J Ophthalmol. 1980 Jan;15(1):51-3.
3
[Pigmented retinal degeneration and hearing disorders (Usher's syndrome)].色素性视网膜变性与听力障碍(Usher综合征)
Klin Oczna. 1961;31:59-61.
4
The frequency of posterior subcapsular cataract in the hereditary retinal degenerations.遗传性视网膜变性中后囊下白内障的发生率。
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[Usher syndrome. Two case reports].[乌舍尔综合征。两例病例报告]
An Otorrinolaringol Ibero Am. 1993;20(3):297-304.
6
[The incidence of Usher's syndrome and its clinical types].
Kulak Burun Bogaz Ihtis Derg. 2002 Jan-Feb;9(1):15-20.
7
An unusual otological manifestation of Usher's syndrome in four siblings.四名兄弟姐妹中出现的一种不寻常的乌舍尔综合征耳部表现。
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8
A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.基于I型Usher综合征新亚型的Usher综合征新临床分类。
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Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.乌舍尔综合征。提示遗传异质性的眼科和神经耳科学表现。
Arch Ophthalmol. 1983 Sep;101(9):1367-74. doi: 10.1001/archopht.1983.01040020369005.
10
Two families with tapetoretinal degeneration having unusual features.两个患有视网膜色素上皮变性且具有异常特征的家族。
Trans Ophthalmol Soc U K (1962). 1970;90:195-206.

引用本文的文献

1
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.II型Usher综合征的遗传异质性:定位到5号染色体长臂。
J Med Genet. 2000 Apr;37(4):256-62. doi: 10.1136/jmg.37.4.256.
2
Evoked otoacoustic emissions behaviour in retinitis pigmentosa.视网膜色素变性患者的诱发耳声发射行为
Doc Ophthalmol. 1994;87(2):167-76. doi: 10.1007/BF01204794.
3
Retinitis pigmentosa and deafness.色素性视网膜炎与耳聋。
J R Soc Med. 1987 Jan;80(1):17-20. doi: 10.1177/014107688708000108.
4
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.一种进行性锥杆营养不良合并牙釉质发育不全:一种新综合征。
J Med Genet. 1988 Nov;25(11):738-40. doi: 10.1136/jmg.25.11.738.